Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia
Anja Troha Gergeli, David Neubauer, Tanja Golli, Tita Butenko, Tanja Loboda, Aleš Maver, Damjan Osredkar
Topics & Concepts
MedicineCongenital myasthenic syndromeGenetic heterogeneityPopulationGenotypePediatricsExome sequencingObservational studyPrevalenceMutationPhenotypeGeneticsGeneBiologyInternal medicineEnvironmental healthMyasthenia Gravis and ThymomaAutoimmune Neurological Disorders and TreatmentsCoagulation, Bradykinin, Polyphosphates, and Angioedema